The value of any kind of data is greatly enhanced when it exists in a form that allows it to be integrated with other data. One approach to integration is through the annotation of multiple bodies of data using common controlled vocabularies or 'ontologies'. Unfortunately, the very success of this approach has led to a proliferation of ontologies, which itself creates obstacles to integration. The Open Biomedical Ontologies (OBO) consortium is pursuing a strategy to overcome this problem. Existing OBO ontologies, including the Gene Ontology, are undergoing coordinated reform, and new ontologies are being created on the basis of an evolving set of shared principles governing ontology development. The result is an expanding family of ontologies designed to be interoperable and logically well formed and to incorporate accurate representations of biological reality. We describe this OBO Foundry initiative and provide guidelines for those who might wish to become involved.In the search for what is biologically and clinically significant in the swarms of data being generated by today's high-throughput technologies, a common strategy involves the creation and analysis of 'annotations' linking primary data to expressions in controlled, structured vocabularies, thereby making the data available to search and to algorithmic processing 1 . The most successful such endeavor, measured both by numbers of users and by reach across species and granularities, is the Gene Ontology (GO) 2 . There exist over 11 million annotations relating gene products described in the UniProt, Ensembl and other databases to terms in the GO3, of which half a million have been manually verified by specialist curators in different modelorganism communities on the basis of the analysis of experimental results reported in 52,000 scientific journal articles (http://www.ebi.ac.uk/GOA/). Data related to some 180,000 genes have been manually annotated in this way, an endeavor now being refined and systematized within the Reference Genome Project (US National Institutes of Health National Human Genome Research Institute grant 2P41HG002273-07), which will provide comprehensive GO annotations for both the human genome and a representative set of model-organism genomes in support of research on the primary molecular systems affecting human health. From retrospective mapping to prospective standardizationThe domain of molecular biology is marked by the availability of large amounts of well defined data that can be used without restriction as inputs to algorithmic processing. In the clinical domain, by contrast, only limited amounts of data are available for research purposes, and these still consist overwhelmingly of natural language text. Even where more systematic clinical data are available, the use of local coding schemes means that these data do not cumulate in ways useful to research 4 . One approach to solving this problem is the Unified Medical Language System (UMLS) 5 , a compendium of some 100 source vocabularies combined through a process of...
With support from the Institutes and Centers forming the NIH Blueprint for Neuroscience Research, we have designed and implemented a new initiative for integrating access to and use of Web-based neuroscience resources: the Neuroscience Information Framework. The Framework arises from the expressed need of the neuroscience community for neuroinformatic tools and resources to aid scientific inquiry, builds upon prior development of
Background: A fundamental goal of the U.S. National Institute of Health (NIH) "Roadmap" is to strengthen Translational Research, defined as the movement of discoveries in basic research to application at the clinical level. A significant barrier to translational research is the lack of uniformly structured data across related biomedical domains. The Semantic Web is an extension of the current Web that enables navigation and meaningful use of digital resources by automatic processes. It is based on common formats that support aggregation and integration of data drawn from diverse sources. A variety of technologies have been built on this foundation that, together, support identifying, representing, and reasoning across a wide range of biomedical data. The Semantic Web Health Care and Life Sciences Interest Group (HCLSIG), set up within the framework of the World Wide Web Consortium, was launched to explore the application of these technologies in a variety of areas. Subgroups focus on making biomedical data available in RDF, working with biomedical ontologies, prototyping clinical decision support systems, working on drug safety and efficacy communication, and supporting disease researchers navigating and annotating the large amount of potentially relevant literature.
A critical component of the Neuroscience Information Framework (NIF) project is a consistent, flexible terminology for describing and retrieving neurosciencerelevant resources. Although the original NIF specification called for a loosely structured controlled vocabulary for describing neuroscience resources, as the NIF system evolved, the requirement for a formally structured ontology for neuroscience with sufficient granularity to describe and access a diverse collection of information became obvious. This requirement led to the NIF standardized (NIFSTD) ontology, a comprehensive collection of common neuroscience domain terminologies woven into an ontologically Neuroinform
The overarching goal of the NIF (Neuroscience Information Framework) project is to be a one-stop-shop for Neuroscience. This paper provides a technical overview of how the system is designed. The technical goal of the first version of the NIF system was to develop an information system that a neuroscientist can use to locate relevant information from a wide variety of information sources by simple keyword queries. Although the user would provide only keywords to retrieve information, the NIF system is designed to treat them as concepts whose meanings are interpreted by the system. Thus, a search for term should find a record containing synonyms of the term.The system is targeted to find information from web pages, publications, databases, web sites built upon databases, XML documents and any other modality in which such information may be published. We have designed a system to achieve this functionality. A central element in the system is an ontology called NIFSTD (for NIF Standard) constructed by amalgamating a number of known and newly developed ontologies. NIFSTD is used by our ontology management module, called OntoQuest to perform ontology-based search over data sources. The NIF architecture currently provides three different mechanisms for searching heterogeneous data sources including relational databases, web sites, XML documents and full text of publications. Version 1.0 of the NIF system is currently in beta test and may be accessed through http://nif.nih.gov.
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